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Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect

Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunologi...

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Autores principales: Vogelaar, Ingrid P., Ligtenberg, Marjolijn J. L., van der Post, Rachel S., de Voer, Richarda M., Kets, C. Marleen, Jansen, Trees J. G., Jacobs, Liesbeth, Schreibelt, Gerty, de Vries, I. Jolanda M., Netea, Mihai G., Hoogerbrugge, Nicoline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803817/
https://www.ncbi.nlm.nih.gov/pubmed/26700889
http://dx.doi.org/10.1007/s10689-015-9859-z
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author Vogelaar, Ingrid P.
Ligtenberg, Marjolijn J. L.
van der Post, Rachel S.
de Voer, Richarda M.
Kets, C. Marleen
Jansen, Trees J. G.
Jacobs, Liesbeth
Schreibelt, Gerty
de Vries, I. Jolanda M.
Netea, Mihai G.
Hoogerbrugge, Nicoline
author_facet Vogelaar, Ingrid P.
Ligtenberg, Marjolijn J. L.
van der Post, Rachel S.
de Voer, Richarda M.
Kets, C. Marleen
Jansen, Trees J. G.
Jacobs, Liesbeth
Schreibelt, Gerty
de Vries, I. Jolanda M.
Netea, Mihai G.
Hoogerbrugge, Nicoline
author_sort Vogelaar, Ingrid P.
collection PubMed
description Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk.
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spelling pubmed-48038172016-04-09 Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect Vogelaar, Ingrid P. Ligtenberg, Marjolijn J. L. van der Post, Rachel S. de Voer, Richarda M. Kets, C. Marleen Jansen, Trees J. G. Jacobs, Liesbeth Schreibelt, Gerty de Vries, I. Jolanda M. Netea, Mihai G. Hoogerbrugge, Nicoline Fam Cancer Original Article Gastric cancer is caused by both genetic and environmental factors. A woman who suffered from recurrent candidiasis throughout her life developed diffuse-type gastric cancer at the age of 23 years. Using whole-exome sequencing we identified a germline homozygous missense variant in MYD88. Immunological assays on peripheral blood mononuclear cells revealed an impaired immune response upon stimulation with Candida albicans, characterized by a defective production of the cytokine interleukin-17. Our data suggest that a genetic defect in MYD88 results in an impaired immune response and may increase gastric cancer risk. Springer Netherlands 2015-12-23 2016 /pmc/articles/PMC4803817/ /pubmed/26700889 http://dx.doi.org/10.1007/s10689-015-9859-z Text en © The Author(s) 2015 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made.
spellingShingle Original Article
Vogelaar, Ingrid P.
Ligtenberg, Marjolijn J. L.
van der Post, Rachel S.
de Voer, Richarda M.
Kets, C. Marleen
Jansen, Trees J. G.
Jacobs, Liesbeth
Schreibelt, Gerty
de Vries, I. Jolanda M.
Netea, Mihai G.
Hoogerbrugge, Nicoline
Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
title Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
title_full Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
title_fullStr Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
title_full_unstemmed Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
title_short Recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial MYD88 defect
title_sort recurrent candidiasis and early-onset gastric cancer in a patient with a genetically defined partial myd88 defect
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4803817/
https://www.ncbi.nlm.nih.gov/pubmed/26700889
http://dx.doi.org/10.1007/s10689-015-9859-z
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